Based on several ultrasounds, Ava was diagnosed with Dandy-Walker Syndrome in utero. When she was born, she had to be watched for hydrocephalus. The birthmark started to appear in the first couple of days after birth. At first, the doctors didn’t think the two were related.
We were referred to a dermatologist and had to wait weeks for an appointment. Luckily for Ava, he was the husband of my high school swim coach, so he saw her the next day- instead of weeks later. He diagnosed her with a hemangioma and began treating her with steroids. He too wondered if the cyst and the birthmark were related and in his research he found something called PHACE Syndrome.
PHACE Syndrome is a list of characteristics that includes a posterior fossa cyst in the brain and large vascular malformations on the face. It often includes vision problems, which Ava had, and heart problems; luckily there were no heart problems.
Still, Ava weighed only 12 lbs on her first birthday. She did what most one-year olds do, but she was really tiny. Later we would find out Ava didn’t have feeling in her mouth and this was probably making eating difficult.
We were assured that hemangiomas could only grow for a year, and for that reason, they began to taper her off the steroids. But the vascular malformation grew and invaded her airway further.
When this was discovered, she was put back on steroids. She had a procedure to look at her airway and we found it was about 70% obstructed. The breathing problems subsided for the time, but Ava was still very under weight and her immune system was compromised by the steroids. At 18 months the doctors took her off steroids again. The breathing problems returned, but the doctor said there was nothing he could do. He insisted the hemangioma couldn’t grow after 18 months, and that it was too dangerous to do anything in her airway. She also wasn’t talking very much.
Ava would wake up in the middle of the night struggling to breathe. Sometimes it even happened during the day, so I’d take her to the doctor and they just didn’t know what to do. It was often implied that the real problem was that I wasn’t feeding my child. We were really on our own to search for answers.
It wasn’t until she was 2 that we found a specialist at Arkansas Children’s Hospital that could treat Ava. During the summer of 2001, Ava’s grandmother saw a doctor on TV that was treating a little girl from Australia who looked a lot like Ava. We sent all of Ava’s records to the hospital.
It was a hard decision to take her there, as not all of her doctors here were supportive. One told us bluntly that they were just trying to take our money. It was all such a nightmare, but even then, Ava was this brave courageous fighter … and the sweetest, happiest little toddler.
So, we made the trip to Arkansas when Ava was about 2 ½ in February 2002. Dr. Waner noticed immediately how sick she was and recognized the vascular malformation in her airway, which required a laser procedure to treat. We were scared, but we were reassured by everyone at the hospital that Dr. Waner was the best person to do it.
Fortunately the procedure was a success, but Ava would need to be monitored closely in the ICU. We were in the hospital for several days because she did continue to have problems breathing until her airway healed. It was scary to see her oxygen saturation numbers drop to the 50s since that had been going on at home for months and we had no idea.
So, despite the relative success of this first treatment, she had a relapse and needed the procedure again in June 2002.
Finally, the invasion of our child’s airway ceased, and she started growing again. There was an improvement in her language and it was very clear she was improving.
For the next 2 years, we flew to Arkansas about every 3 to 4 months for additional surgeries. The trips were always at least 10 days. Fortunately, in June 2004, Dr. Waner moved from Arkansas to New York City. That was a huge help because we could travel to him so much more easily.
Ava really didn’t have a normal life but she was really such a happy sweet little girl. At 4½ she began speech and OT. Ava was attending a K4 program, but she missed a lot of school for therapy.
One result of her numerous surgeries was that she didn’t have feeling in her mouth, which was one of the causes of her feeding problems. Eating and drinking were always difficult for Ava. It is something that is still hard and can make it hard for her to fit in socially. Sometimes she had to deal with some teasing over it. Considering the extent of the problem, it was amazing how well she was doing eating and drinking. She had learned to compensate.
The posterior fossa cyst on Ava’s brain also affected some of her gross motor development, which was something else she had to overcome. Ava was late to walk because of that. She could stand and walk with the assistance of holding my hand but the weakness in her core and her vision problems made it difficult for her to walk on her own well past 1½ years old. Again, the therapists were amazed at how well she had compensated for those weaknesses.
It was clear to me we had reached a point where needed to stop the surgeries for awhile and the doctor agreed they could wait. She needed to play soccer and go to dance class like other kids her age. She had learning difficulties and it was important for her to not miss school since most of her surgeries were cosmetic at this point.
Ava had surgeries in 8th and 9th grade because her appearance was important to her, and I agreed because I wanted her to be happy. When returned to New York, Dr. Waner was so happy to see her again. He remembered Ava and how difficult her case was. After these surgeries, Ava decided she wanted to stop for awhile so she could participate in cross country and track.
Now a senior year in high school, the fact that she ran varsity for her cross country team this past fall shows (again) just how tough she is. Ava has received many messages to that effect from her teammates. She always works so hard and that is part of her nature. Our neighbors constantly comment to me how she is out there running everyday regardless of the weather.
Ava found the Vascular Birthmarks Foundation on social media. She inspired many students at Lower Dauphin High School in May 2017 to wear hearts on their faces in recognition of Vascular Birthmarks Day of Awareness. She also is developing a website called Birthmarks are Beautiful and is trying to spread the word on her own. This is something she is continuing to work on all while balancing, running, working, and school. I know she will continue to do it.
Ava also attended Camp Discovery in Millville, PA starting at age 8. Her dermatologist thought it would be a great experience for her and he was one of the directors of the camp. The first couple years Ava attended as a day camper because she didn’t like to be away from home. She would attend the camp during the day, and then stay over with my parents who lived nearby. Happily, she overcame her anxiety over that as well. By the time she was 13, she was traveling to a similar camp in Minnesota where she’d spend a week with kids like her.
It was so great for her to travel out there and leave her complicated life behind. She would come back home uplifted and with even more of a fighting spirit. This year, all on her own, she is going through the process of being a counselor for Camp Discovery. She took the initiative by obtaining her own letter of recommendation and completing the medical forms. It was such a good learning experience for her. I also really enjoyed reading her letters of recommendation by others who recognize Ava’s amazing character.
Ava was honored with the Adam W. Sellers Award in May of 2018 for her work with Vascular Birthmark Awareness in her school community. She participated in graduation but she will officially graduate in June of 2019 after she completes the Project Search Program.
Ava started Project Search in August, a program for students with disabilities to be able to find a job after graduation. She has met so many great people and has had so many great opportunities. She comes home every day with great stories and is excited about her future. When I go to her progress check meetings, I can see how much Ava is respected and cared for by the staff. I was a teacher at her high school, so it is so wonderful to see how she is independently establishing relationships in her working community.
In October, the Project Search Staff asked if they could feature Ava in the promotional video for the program. It was released on January 23, 2019, and it so captures Ava’s wonderful optimistic spirt. Ava is currently interviewing for full and part time employment. She also wants to continue her education at a community college or on the job training. One of the best parts of Project Search has been the group of friends she has made.